Article
P0 (protein zero) mutation S34C underlies instability of internodal myelin in S63C mice.
The Journal of biological chemistry - 31 Dec 2010
Avila Robin L, D'Antonio Maurizio, Bachi Angela, Inouye Hideyo, Feltri M Laura, Wrabetz Lawrence, Kirschner Daniel A
Abstract excerpt
P0 constitutes 50-60% of protein in peripheral nerve myelin and is essential for its structure and stability. Mutations within the P0 gene (MPZ) underlie a variety of hereditary neuropathies. MpzS63C transgenic mice encode a P0 with a serine to cysteine substitution at position 34 in the extracellular domain of mature P0 (P0S34C), associated with the hypomyelinating Déjérine-Sottas syndrome in human. S63C mice...
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